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This Concept Map, created with IHMC CmapTools, has information related to: Gauchers Disease, Ceramide which is an important substrate for Red Blood Cell synthesis, Homoallelic Gauchers Disease where both parents, Mutated alleles which does not match patient's Genetic History, both parents pass on identical Mutated alleles, lipid-filled macrophages termed Gaucher cells, Premature RBC degredation leading to reduced platelets, glucocerebroside and is normally cleaved into Ceramide, Father with IVS2+1G to A mutation, decreased mineral density leading to frequent bone fractures, Heteroallelic Gauchers Disease in 4 year old girl, 4 year old girl presents with 19% of normal WBC beta-glucosidase activity, Clinical presentation of Heteroallelic Gauchers Disease, 4 year old girl presents with frequent bone fractures, 4 year old girl presents with hemoglobin concentration of 12.5 g/dl, protein saposin C in lysosomes, Gaucher cells also accumulate in bone, Ceredase which is a placenta extracted form of beta-glucosidase (Glucocerebrosidase), hematopoetic stem cells leading to Anemia, hematopoetic stem cells leading to reduced platelets, N370S mutation pass defect to child to produce Heteroallelic Gauchers Disease